NATURE GENETICS, vol.39, no.2, pp.162-164, 2007 (SCI-Expanded)
PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA- D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 ( also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer.